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eISSN: 1643-3750

Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China

Zhong Liang, Weidong Hu, Shuping Li, Zhenhong Wei, Zijiang Zhu

Department of Thoracic Surgery, Gansu Provincial Hospital, Lanzhou, Gansu, China (mainland)

Med Sci Monit 2020; 26:e923926

DOI: 10.12659/MSM.923926

Available online: 2020-06-15

Published: 2020-06-24

BACKGROUND: Germline mutations of BRCA2 have been reported in various malignancies. We investigated BRCA2 germline mutations in familial clusters with esophageal squamous cell carcinoma (ESCC).
MATERIAL AND METHODS: We screened the DNA of familial ESCC patients for BRCA2 germline mutations with whole gene sequencing. Multiple BRCA2 mutations including one novel splice variant, c.426-2A>G were identified. Other family members, sporadic ESCC patients, and controls were also assessed for the novel mutation.
RESULTS: The mutation c.426-2A>G was found in 2 affected ESCC sisters and 7 other family members. The splice variant mutation results in exon 5 skipping with a frame shift leading to a premature stop codon in exon 6 and truncation. Novel mutation tracking ruled out single nucleotide polymorphism (SNP) in 100 chromosomes of healthy individuals.
CONCLUSIONS: BRCA2 germline mutation in ESCC patients may play a role in genetic susceptibility to familial ESCC. Genetic analysis of BRCA2 in patients with familial ESCC could provide opportunities for targeted therapies.

Keywords: Carcinoma, Squamous Cell, Esophageal Neoplasms, Genes, BRCA2, Protein Isoforms